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Speech apraxia

Gene: CDK13

Green List (high evidence)
CDK13 (cyclin dependent kinase 13)
EnsemblGeneIds (GRCh38): ENSG00000065883
EnsemblGeneIds (GRCh37): ENSG00000065883
OMIM: 603309, Gene2Phenotype
CDK13 is in 9 panels

1 review

Thomas Scerri (Murdoch Children's Research Institute)

Green List (high evidence)

First reported CAS case with a de novo CDK13 missense variant (Hildebrand et al., 2020; PMID: 32345733).

Morison et al. (2023; PMID: 36599938) report 41 cases (with 33 novel variants) and find "most participants used augmentative and alternative communication (AAC) in early childhood (24/41). CAS was common (14/22)."
Sources: Expert list, Expert Review
Created: 24 Jun 2024, 5:26 p.m. | Last Modified: 1 Jul 2024, 9:43 a.m.
Panel Version: 0.38

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, MIM# 617360

Publications

Created: 24 Jun 2024, 5:26 p.m.
Last Modified: 1 Jul 2024, 9:43 a.m.
Panel version: 0.8

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, MIM# 617360
OMIM
603309
Clinvar variants
Variants in CDK13
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Jun 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdk13 has been classified as Green List (High Evidence).

26 Jun 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdk13 has been classified as Green List (High Evidence).

24 Jun 2024, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Thomas Scerri (Murdoch Children's Research Institute)

gene: CDK13 was added gene: CDK13 was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: CDK13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDK13 were set to 32345733; 36599938 Phenotypes for gene: CDK13 were set to Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, MIM# 617360 Review for gene: CDK13 was set to GREEN